GRID2 Gene Spinocerebellar Ataxia Type 18: Symptoms, Diagnosis, and Cost of NGS Genetic Test in India
Spinocerebellar ataxia type 18 (SCA18) is a rare genetic disorder that affects the cerebellum, the part of the brain responsible for coordinating movement. SCA18 is caused by mutations in the GRID2 gene, which provides instructions for making a protein called glutamate receptor delta-2.
Glutamate receptor delta-2 is involved in the transmission of signals between nerve cells in the cerebellum. Mutations in the GRID2 gene disrupt this process, leading to the symptoms of SCA18.
Symptoms of SCA18
The symptoms of SCA18 typically appear in early adulthood and progress slowly over time. The most common symptoms of SCA18 include:
- Loss of coordination and balance
- Trouble walking or standing
- Difficulty with fine motor skills, such as writing or buttoning clothes
- Tremors or shaking
- Slurred speech or difficulty swallowing
Other symptoms may include vision problems, cognitive impairment, and mood changes. The severity and progression of symptoms can vary widely between individuals with SCA18.
Diagnosis of SCA18
SCA18 is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A neurological exam can help identify the characteristic symptoms of SCA18, such as gait ataxia and dysarthria.
Genetic testing can confirm the presence of a mutation in the GRID2 gene. Next-generation sequencing (NGS) technology allows for rapid and comprehensive analysis of multiple genes, making it a useful tool for diagnosing SCA18 and other genetic disorders.
Imaging studies, such as magnetic resonance imaging (MRI), can help identify structural changes in the cerebellum that are associated with SCA18.
Cost of NGS Genetic Test for SCA18 in India
The cost of NGS genetic testing for SCA18 in India can vary depending on the specific laboratory and testing protocol used. At DNA Labs India, the cost of a comprehensive NGS genetic test for SCA18 is INR 20,000.
This test analyzes the entire coding region of the GRID2 gene to identify mutations that are associated with SCA18. Results are typically available within 4-6 weeks.
Conclusion
SCA18 is a rare genetic disorder that can cause significant disability and impairment. Early diagnosis through genetic testing can help individuals and families understand the cause of their symptoms and make informed decisions about treatment and management.
If you or a loved one is experiencing symptoms of SCA18 or another genetic disorder, contact DNA Labs India to learn more about NGS genetic testing and other diagnostic services.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive NGS Genetic Test
| Test Name | GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Test type | Neurologist |
| Pre-test Information | Clinical History of Patient who is going for GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive NGS Genetic Test and the test costs a special discounted price of 20000 INR across India. The cities where this service is available include Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, Indore, Thane, Bhopal, Visakhapatnam, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivali, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi Mumbai, Prayagraj, Howrah, Ranchi, Jabalpur, Gwalior, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Kota, Guwahati, Chandigarh, Thiruvananthapuram, Solapur, Hubballi-Dharwad, Tiruchirappalli, Tiruppur, Moradabad, Mysore, Bareily, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal , Guntur , Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore , Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola, Gulbarga, Jamnagar, Ujjain, Loni, Siliguri, Jhansi, Ulhasnagar, Jammu, Sangli-Miraj & Kupwad, Mangalore, Erode10, Belgaum, Ambattur, Tirunelveli, Malegaon, Gaya, Jalgaon, Udaipur, Maheshtala, Davanagere, Kozhikode, Kurnool, Rajpur Sonarpur, Rajahmundry , Bokaro, South Dumdum, Bellary, Patiala, Gopalpur, Agartala, Bhagalpur, Muzaffarnagar, Bhatpara, Panihati, Latur, Dhule, Tirupati , Rohtak, Korba, Bhilwara, Berhampur, Muzaffarpur, Ahmednagar, Mathura, Kollam, Avadi, Kadapa, Kamarhati, Sambalpur, Bilaspur, Shahjahanpur, Satara, Bijapur, Rampur, Shivamogga, Chandrapur, Junagadh, Thrissur, Alwar, Bardhaman, Kulti, Kakinada, Nizamabad, Parbhani, Tumkur, Khammam, Ozhukarai, Bihar Sharif, Panipat, Darbhanga, Bally, Aizawl, Dewas, Ichalkaranji, Karnal, Bathinda, Jalna, Eluru, Kirari Suleman Nagar, Barasat, Purnia, Satna, Mau, Sonipat, Farrukhabad, Sagar, Rourkela, Durg, Imphal, Ratlam, Hapur, Arrah, Karimnagar, Anantapur, Etawah, Ambernath, North Dumdum, Bharatpur, Begusarai, New Delhi, Gandhidham, Baranagar, Tiruvottiyur, Puducherry, Sikar, Thoothukudi, Rewa, Mirzapur, Raichur, Pali, Ramagundam , Haridwar, Vijayanagaram, Katihar, Nagarcoil, Sri Ganganagar, Karawal Nagar, Mango, Thanjavur, Bulandshahr, Uluberia, Murwara, Sambhal, Singrauli, Nadiad, Secunderabad, Naihati, Yamunanagar, Bidhan Nagar, Pallavaram, Bidar, Munger, Panchkula, Burhanpur, Raurkela Industrial Township, Kharagpur, Dindigul, Gandhinagar, Hospet, Nangloi Jat, Malda, Ongole, Deoghar, Chapra, Haldia, Khandwa, Nandyal, Chittoor , Morena, Amroha, Anand, Bhind, Bhalswa Jahangir Pur, Madhyamgram, Bhiwani, Navi Mumbai Panvel Raigad, Baharampur, Ambala, Morvi, Fatehpur, Rae Bareli, Khora, Bhusawal, Orai, Bahraich, Vellore, Mahesana, Sambalpur, Raiganj, Sirsa, Danapur, Serampore, Sultan Pur Majra, Guna, Jaunpur, Panvel, Shivpuri, Surendranagar Dudhrej, Unnao, Hugli and Chinsurah, Alappuzha, Kottayam, Machilipatnam, Shimla, Adoni, Tenali, Proddatur, Saharsa, Hindupur, Sasaram, Hajipur, Bhimavaram, Dehri, Madanapalle, Siwan, Bettiah, Guntakal, Srikakulam, Motihari, Dharmavaram, Gudivada, Narasaraopet, Bagaha, Miryalaguda, Tadipatri, Kishanganj, Karaikudi, Suryapet, Jamalpur, Kavali, Tadepalligudem, Amaravati, Buxar, Jehanabad, Aurangabad.
